oculodental syndrome, Rutherfurd type
Findings
No curated finding names oculodental syndrome, Rutherfurd type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.
Definition from the Mondo Disease Ontology (MONDO:0008396), read 2026-09-29. CC BY 4.0.
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Corneal dystrophyHPOHP:0001131
- Very frequent (80% to 99% of cases)
- Delayed eruption of teethHPOHP:0000684
- Very frequent (80% to 99% of cases)
- Gingival fibromatosisHPOHP:0000169
- Very frequent (80% to 99% of cases)
- Gingival overgrowthHPOHP:0000212
- Very frequent (80% to 99% of cases)
- Abnormal dental morphologyHPOHP:0006482
- Frequent (30% to 79% of cases)
- Corneal opacityHPOHP:0007957
- Frequent (30% to 79% of cases)
- Impaired mastication
Where it sits
Other names
5 names
Resolves to: oculodental syndrome, Rutherfurd type
- Also called
- corneal dystrophy with gum Hypertrophygingival hypertrophy corneal dystrophygingival Hypertrophy with corneal dystrophygingival hypertrophy-corneal dystrophyRutherfurd syndrome